MCID: SYN001
MIFTS: 53

Syndactyly malady

Categories: Rare diseases, Bone diseases, Genetic diseases, Fetal diseases

Aliases & Classifications for Syndactyly

Aliases & Descriptions for Syndactyly:

Name: Syndactyly 12 50 29 52 42 14
Chromosome 2q35 Duplication Syndrome 12
Syndactyly, Type I 69
Webbing of Digits 12
Symphalangism 12
Symphalangy 12

Classifications:



External Ids:

Disease Ontology 12 DOID:11193
ICD10 33 Q70 Q70.9
ICD9CM 35 755.1
MeSH 42 D013576
NCIt 47 C87125
UMLS 69 C0039075

Summaries for Syndactyly

NIH Rare Diseases : 50 syndactyly is a term used to describe webbed or conjoined digits (fingers or toes). it may occur as an isolated finding or may be a symptom of a genetic syndrome. there are over 300 genetic syndromes that involve syndactyly, such as apert syndrome and saethre-chotzen syndrome. there are many different ways to classify or group non-syndromic (isolated) syndactyly. presently, researchers classify the different types of syndactyly based on how severe the syndactyly is, which digits are involved, how the trait appears to run through families, and whether an underlying gene mutation has been identified. using this system, nine different non-syndromic types of syndactyly have been defined.  syndactyly is caused by a mixture of genetic and environmental factors. in about 10-40% of individuals with syndactyly, there is a family history. syndactyly can run through families in many different ways, depending on the underlying cause. when isolated, it can be inherited in an autosomal dominant, autosomal recessive, or x-linked recessive manner. treatment usually involves surgery to separate the digits. last updated: 12/15/2016

MalaCards based summary : Syndactyly, also known as chromosome 2q35 duplication syndrome, is related to syndactyly, type iv and brachydactyly-syndactyly syndrome. An important gene associated with Syndactyly is HOXD13 (Homeobox D13), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Tgif disruption of Shh signaling. Affiliated tissues include skin, bone and eye, and related phenotypes are limbs/digits/tail and mortality/aging

Disease Ontology : 12 A synostosis that results_in the fusion of two or more digits.

Wikipedia : 71 Syndactyly (from Greek συν- meaning \"together\" and δακτυλος meaning \"finger\") is a... more...

Related Diseases for Syndactyly

Diseases in the Syndactyly family:

Syndactyly, Type V Syndactyly, Type Iii
Syndactyly, Type Iv Syndactyly Type 6

Diseases related to Syndactyly via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 253)
id Related Disease Score Top Affiliating Genes
1 syndactyly, type iv 33.5 LMBR1 SHH
2 brachydactyly-syndactyly syndrome 33.4 HOXD10 HOXD11 HOXD13
3 tricho odonto onychodysplasia syndactyly dominant type 32.5 GLI3 SHH
4 syndactyly, type iii 12.3
5 syndactyly, type v 12.3
6 syndactyly, mesoaxial synostotic, with phalangeal reduction 12.2
7 cenani-lenz syndactyly syndrome 12.1
8 ectodermal dysplasia-syndactyly syndrome 1 12.0
9 craniosynostosis, philadelphia type 11.9
10 star syndrome 11.9
11 synpolydactyly 11.8
12 syndactyly type 6 11.8
13 syndactyly type 1 with cataracts and mental retardation 11.8
14 syndactyly-polydactyly-earlobe syndrome 11.7
15 blepharophimosis with ptosis, syndactyly, and short stature 11.7
16 ectodermal dysplasia-syndactyly syndrome 2 11.7
17 ectodermal dysplasia mental retardation syndactyly 11.7
18 eyebrows, duplication of, with stretchable skin and syndactyly 11.7
19 aphalangia, partial, with syndactyly and duplication of metatarsal iv 11.7
20 timothy syndrome 11.7
21 coronal synostosis, syndactyly and jejunal atresia 11.7
22 filippi syndrome 11.6
23 sclerocornea, syndactyly, ambiguous genitalia 11.6
24 fbln1-related developmental delay-central nervous system anomaly-syndactyly syndrome 11.6
25 syndactyly cataract mental retardation 11.6
26 syndactyly ectodermal dysplasia cleft lip palate hand foot 11.6
27 hydrops ectrodactyly syndactyly 11.6
28 autosomal dominant trichoodontoonychodysplasia-syndactyly 11.6
29 ptosis-syndactyly-learning difficulties syndrome 11.6
30 cleft lip palate oligodontia syndactyly pili torti 11.6
31 apert syndrome 11.6
32 fraser syndrome 11.6
33 synpolydactyly, type ii 11.5
34 zygodactyly 1 11.5
35 cleft lip/palate-ectodermal dysplasia syndrome 11.4
36 microphthalmia with limb anomalies 11.4
37 greig cephalopolysyndactyly syndrome 11.4
38 poland syndrome 11.4
39 saethre-chotzen syndrome 11.4
40 oculodentodigital dysplasia 11.3
41 sclerosteosis 1 11.3
42 zygodactyly type 2 11.1
43 zygodactyly type 3 11.1
44 zygodactyly type 4 11.1
45 sclerosteosis 11.1
46 scalp-ear-nipple syndrome 11.0
47 brachydactyly 11.0
48 carpenter syndrome 11.0
49 metacarpal 4-5 fusion 10.9
50 polydactyly, preaxial, type iv 10.9

Graphical network of the top 20 diseases related to Syndactyly:



Diseases related to Syndactyly

Symptoms & Phenotypes for Syndactyly

MGI Mouse Phenotypes related to Syndactyly:

44 (show all 12)
id Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 10.25 HOXD11 HOXD13 LMBR1 LRP4 SHH TP63
2 mortality/aging MP:0010768 10.22 FGFR3 GJA1 GLI3 HOXD10 HOXD11 HOXD13
3 cellular MP:0005384 10.21 TP63 BHLHA9 FGFR2 FGFR3 GJA1 GLI3
4 embryo MP:0005380 10.08 HOXD13 LRP4 SHH TP63 FBXW4 FGFR2
5 integument MP:0010771 10.06 FGFR2 FGFR3 GJA1 GLI3 HOXD13 LRP4
6 craniofacial MP:0005382 10.04 FGFR2 FGFR3 GJA1 GLI3 LRP4 SHH
7 no phenotypic analysis MP:0003012 10.02 FGFR2 FGFR3 GJA1 GLI3 HOXD11 HOXD13
8 renal/urinary system MP:0005367 9.97 FGFR2 FGFR3 GLI3 HOXD10 HOXD11 HOXD13
9 reproductive system MP:0005389 9.96 FGFR2 FGFR3 GJA1 GLI3 HOXD10 HOXD11
10 skeleton MP:0005390 9.73 FBXW4 FGFR2 FGFR3 GJA1 GLI3 HOXD10
11 respiratory system MP:0005388 9.7 FGFR2 FGFR3 GJA1 GLI3 LRP4 SHH
12 vision/eye MP:0005391 9.17 FGFR2 FGFR3 GJA1 GLI3 HOXD13 SHH

Drugs & Therapeutics for Syndactyly

Interventional clinical trials:


id Name Status NCT ID Phase
1 A Trial to Evaluate the Safety, Local Tolerability, Pharmacokinetics and Pharmacodynamics of LDE225 on Skin Basal Cell Carcinomas in Gorlin Syndrome Patients Completed NCT00961896 Phase 2
2 Genetic Analysis of Fraser Syndrome and Fryns Syndrome Completed NCT00032877
3 Study of Skeletal Disorders and Short Stature Completed NCT00001754
4 Treatment of Proximal Interphalangeal Joint Injuries. Clinical Efficiency of Syndactyly Treatment and Digital Compression Recruiting NCT02548260
5 Syndactyly Repair: Comparison of Skin Graft and No Skin Graft Techniques Active, not recruiting NCT01416090
6 Comparison of Scar Formation in Syndactyly Release Surgery With Full Thickness Skin Graft Versus Skin Graft Substitute Not yet recruiting NCT03107546

Search NIH Clinical Center for Syndactyly

Cochrane evidence based reviews: syndactyly

Genetic Tests for Syndactyly

Genetic tests related to Syndactyly:

id Genetic test Affiliating Genes
1 Syndactyly 29

Anatomical Context for Syndactyly

MalaCards organs/tissues related to Syndactyly:

39
Skin, Bone, Eye, Testes, Kidney, Heart

Publications for Syndactyly

Articles related to Syndactyly:

(show top 50) (show all 467)
id Title Authors Year
1
A Systematic Review and Comparison of Outcomes Following Simple Syndactyly Reconstruction With Skin Grafts or a Dorsal Metacarpal Advancement Flap. ( 28052826 )
2017
2
Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum. ( 28369852 )
2017
3
Timothy syndrome 1 genotype without syndactyly and major extracardiac manifestations. ( 28211989 )
2017
4
Subcutaneous pedicle V-Y flap for release of incomplete congenital syndactyly. ( 27233223 )
2016
5
A de novo 2q35-q36.1 deletion incorporating IHH in a Chinese boy (47,XYY) with syndactyly, type III Waardenburg syndrome, and congenital heart disease. ( 27966732 )
2016
6
Radiographic and computed tomographic evaluation and gait analysis of Brazilian minipigs with syndactyly. ( 27580109 )
2016
7
"A picture says a thousand words" - Novel teaching model for interdigitating flaps in syndactyly. ( 27423251 )
2016
8
Constrictive Pericarditis and Primary Amenorrhea with Syndactyly in an Iranian Female: Mulibrey Nanism Syndrome. ( 28496510 )
2016
9
Bilateral tibial agenesis and syndactyly in a cat. ( 27102622 )
2016
10
Foot Syndactyly: A Clinical and Demographic Analysis. ( 27896188 )
2016
11
Congenital cutis marmorata telangiectatica and syndactyly in a preterm: case report. ( 27079404 )
2016
12
Ocular manifestations of X-linked dominant FAM58A mutation in toe syndactyly, telecanthus, anogenital, and renal malformations ('STAR') syndrome. ( 26882209 )
2016
13
Somatic mosaicism of the PIK3CA gene identified in a Hungarian girl with macrodactyly and syndactyly. ( 26851524 )
2016
14
Complex Camptosynpolydactyly and Mesoaxial synostotic syndactyly with phalangeal reduction are allelic disorders. ( 27041388 )
2016
15
Interdisciplinary approach for somatoprosthetic rehabilitation of a patient with clino-syndactyly and unusual dermatoglyphics. ( 26944703 )
2016
16
A novel GJA1 mutation identified by whole exome sequencing in a Chinese family with autosomal dominant syndactyly. ( 27241686 )
2016
17
The Modified 3-square Flap Method for Reconstruction of Toe Syndactyly. ( 27536472 )
2016
18
Idiopathic Fenestrated Complex Syndactyly in a Unique Crisscross Fashion. ( 28029392 )
2016
19
Linear Separation of Toe Syndactyly With Preserved Subcutaneous Vascular Network Skin Grafts. ( 27404473 )
2016
20
Syndactyly in a novel Fras1(rdf) mutant results from interruption of signals for interdigital apoptosis. ( 26813283 )
2016
21
Retroauricular full-thickness skin grafts in syndactyly repair: outcome and comparison with inguinal full-thickness skin grafts: retrospective (cross-sectional) study. ( 27011298 )
2016
22
Syndactyly Release. ( 27895538 )
2016
23
Collagenase induced syndactyly: a case report. ( 25770898 )
2015
24
Unusual manifestations of ectodermal dysplasia-syndactyly syndrome type I in two Yemeni siblings. ( 25612123 )
2015
25
Preoperative electrocardiograms for nonsyndromic children with hand syndactyly. ( 25542431 )
2015
26
Iloprost administration in acrodermatitis of Hallopeau complicated by acquired toes syndactyly: a case report and review of the literature. ( 26367710 )
2015
27
Technique of Dorsal Transversely Oriented Transposition Flap for Web Reconstruction in Toe Syndactyly Surgery. ( 25998477 )
2015
28
V-Y and rectangular flap combination for syndactyly repair. ( 26541805 )
2015
29
Surgical correction of complex syndactyly with bony fusion using adipofascial flaps for bone and joint surface coverage after finger separation. ( 25455285 )
2015
30
Advances in the Molecular Genetics of Non-syndromic Syndactyly. ( 26069458 )
2015
31
The Use of an Hourglass Dorsal Advancement Flap Without Skin Graft for Congenital Syndactyly. ( 26070231 )
2015
32
Long-term results of syndactyly correction by the trilobed flap technique focusing on hand function and quality of life. ( 26546604 )
2015
33
A case of familial syndactyly associated with eye and dental abnormalities. ( 26595693 )
2015
34
Sclerosteosis (craniotubular hyperostosis-syndactyly) with complex hyperphalangy of the index finger. ( 25835322 )
2015
35
'Matriderm' dermal substitute with split-thickness skin graft compared with full-thickness skin graft for the coverage of skin defects after surgical treatment of congenital syndactyly: results in 40 commissures. ( 26141023 )
2015
36
A Simple Alternative Treatment for Syndactyly of the Toe. ( 26261069 )
2015
37
Dorsal plane-shaped advancement flap for the reconstruction of web space in syndactyly without skin grafting: A preliminary report. ( 26190763 )
2015
38
Syndactyly Web Space Reconstruction Using the Tapered M-to-V Flap: A Single-Surgeon, 30-Year Experience. ( 26163923 )
2015
39
Polymelia and Syndactyly in a Swainson's Hawk (Buteo swainsoni). ( 26555107 )
2015
40
A comparative review of three techniques of syndactyly release. ( 26878529 )
2015
41
A rare association with suffered cardiac arrest, long QT interval, and syndactyly: Timothy syndrome (LQT-8). ( 26301350 )
2015
42
Bilobe Flap for Web Reconstruction in Adult Syndactyly Release: A New Technique Which Can Avoid the Use of Skin Graft. ( 26397519 )
2015
43
Perifascial areolar tissue grafting for treating syndactyly with bone fusion in patients with Apert syndrome. ( 26365357 )
2015
44
An infant with large fontanelles, aplasia cutis congenita, tessier facial cleft, polydactyly inversus, and toe syndactyly: A previously undescribed syndrome? ( 25708102 )
2015
45
A toe keloid after syndactyly release treated with surgical excision and intralesional steroid injection. ( 25426369 )
2014
46
The preliminary outcome of syndactyly management in children with a new external separation device. ( 25387062 )
2014
47
Syndactyly correction using a venous flap with the plantar cutaneous venous arch. ( 24841825 )
2014
48
Results of syndactyly release using a modification of the Flatt technique. ( 24554689 )
2014
49
Mutations in the homeodomain of HOXD13 cause syndactyly type 1-c in two Chinese families. ( 24789103 )
2014
50
Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the rac1 pathway and the kinetics of adherens junction formation. ( 24577405 )
2014

Variations for Syndactyly

ClinVar genetic disease variations for Syndactyly:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 HOXD13 NM_000523.3(HOXD13): c.820C> T (p.Arg274Ter) single nucleotide variant Pathogenic/Likely pathogenic rs200750564 GRCh37 Chromosome 2, 176959246: 176959246

Copy number variations for Syndactyly from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 142096 2 219500000 222200000 Duplication IHH Syndactyly

Expression for Syndactyly

Search GEO for disease gene expression data for Syndactyly.

Pathways for Syndactyly

Pathways related to Syndactyly according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.26 GJA1 SHH TP63
2 9.58 GLI3 SHH

GO Terms for Syndactyly

Biological processes related to Syndactyly according to GeneCards Suite gene sharing:

(show all 50)
id Name GO ID Score Top Affiliating Genes
1 cell-cell signaling GO:0007267 9.99 FGFR2 FGFR3 GJA1 SHH
2 skeletal system development GO:0001501 9.9 FGFR3 HOXD10 HOXD13 TP63
3 kidney development GO:0001822 9.87 GLI3 LRP4 SHH
4 lung development GO:0030324 9.86 FGFR2 GLI3 SHH
5 positive regulation of MAPK cascade GO:0043410 9.85 FAM58A FGFR2 FGFR3
6 anterior/posterior pattern specification GO:0009952 9.83 GLI3 HOXD10 HOXD13 SHH
7 branching involved in ureteric bud morphogenesis GO:0001658 9.78 GLI3 HOXD11 SHH
8 hair follicle development GO:0001942 9.77 LRP4 SHH TP63
9 embryonic organ development GO:0048568 9.76 FGFR2 GLI3 SHH
10 odontogenesis of dentin-containing tooth GO:0042475 9.73 GLI3 LRP4 SHH TP63
11 hair follicle morphogenesis GO:0031069 9.72 FGFR2 SHH TP63
12 limb morphogenesis GO:0035108 9.71 GLI3 HOXD13
13 spinal cord motor neuron differentiation GO:0021522 9.71 GLI3 SHH
14 pattern specification process GO:0007389 9.71 GLI3 HOXD13 SHH TP63
15 positive regulation of neuroblast proliferation GO:0002052 9.7 GLI3 SHH
16 male genitalia development GO:0030539 9.7 HOXD13 SHH
17 positive regulation of protein import into nucleus GO:0042307 9.7 GLI3 SHH
18 embryonic morphogenesis GO:0048598 9.7 GLI3 SHH
19 branching involved in salivary gland morphogenesis GO:0060445 9.68 FGFR2 SHH
20 negative thymic T cell selection GO:0045060 9.68 GLI3 SHH
21 positive regulation of alpha-beta T cell differentiation GO:0046638 9.68 GLI3 SHH
22 prostate gland development GO:0030850 9.67 SHH TP63
23 limb bud formation GO:0060174 9.67 FGFR2 SHH
24 lung-associated mesenchyme development GO:0060484 9.67 FGFR2 SHH
25 embryonic digestive tract morphogenesis GO:0048557 9.67 FGFR2 GLI3 SHH
26 dorsal/ventral pattern formation GO:0009953 9.67 GLI3 HOXD11 LRP4 SHH
27 gland morphogenesis GO:0022612 9.66 FGFR2 HOXD13
28 artery development GO:0060840 9.66 GLI3 SHH
29 positive regulation of phospholipase activity GO:0010518 9.65 FGFR2 FGFR3
30 regulation of branching involved in prostate gland morphogenesis GO:0060687 9.65 FGFR2 HOXD13
31 endochondral bone growth GO:0003416 9.65 FGFR2 FGFR3
32 anatomical structure formation involved in morphogenesis GO:0048646 9.65 GLI3 SHH TP63
33 lung lobe morphogenesis GO:0060463 9.64 FGFR2 SHH
34 prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis GO:0060527 9.64 FGFR2 HOXD13
35 epithelial cell proliferation involved in salivary gland morphogenesis GO:0060664 9.63 FGFR2 SHH
36 spinal cord dorsal/ventral patterning GO:0021513 9.63 GLI3 SHH
37 anatomical structure development GO:0048856 9.63 GLI3 LRP4 SHH
38 branching involved in prostate gland morphogenesis GO:0060442 9.62 FGFR2 SHH
39 limb development GO:0060173 9.62 FBXW4 GLI3 LRP4 SHH
40 hindgut morphogenesis GO:0007442 9.61 GLI3 SHH
41 prostate epithelial cord elongation GO:0060523 9.58 FGFR2 SHH
42 negative regulation of alpha-beta T cell differentiation GO:0046639 9.57 GLI3 SHH
43 mesenchymal cell proliferation involved in lung development GO:0060916 9.56 FGFR2 SHH
44 positive regulation of mesenchymal cell proliferation GO:0002053 9.56 FBXW4 FGFR2 SHH TP63
45 squamous basal epithelial stem cell differentiation involved in prostate gland acinus development GO:0060529 9.54 FGFR2 TP63
46 proximal/distal pattern formation GO:0009954 9.46 GLI3 HOXD10 LRP4 TP63
47 embryonic digit morphogenesis GO:0042733 9.43 FBXW4 GLI3 HOXD13 LMBR1 LRP4 SHH
48 embryonic limb morphogenesis GO:0030326 9.17 FBXW4 GLI3 HOXD10 HOXD13 LRP4 SHH
49 positive regulation of transcription from RNA polymerase II promoter GO:0045944 10.16 FAM58A FGFR2 GLI3 HOXD10 HOXD13 SHH
50 multicellular organism development GO:0007275 10.11 BHLHA9 FBXW4 HOXD10 HOXD11 HOXD13 LRP4

Molecular functions related to Syndactyly according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.35 GLI3 HOXD10 HOXD11 HOXD13 TP63
2 fibroblast growth factor binding GO:0017134 9.16 FGFR2 FGFR3
3 fibroblast growth factor-activated receptor activity GO:0005007 8.62 FGFR2 FGFR3

Sources for Syndactyly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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